| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Papillary thyroid carcinoma
|
0.700 | CausalMutation | CLINVAR | ||||||||
ovarian neoplasm
|
0.700 | CausalMutation | CLINVAR | ||||||||
Endometrial Carcinoma
|
0.700 | CausalMutation | CLINVAR | ||||||||
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
|
0.700 | CausalMutation | CLINVAR | ||||||||
Penile freckling
|
0.700 | CausalMutation | CLINVAR | ||||||||
MACROCEPHALY/AUTISM SYNDROME
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cerebellar Granule Cell Hypertrophy and Megalencephaly
|
0.700 | CausalMutation | CLINVAR | ||||||||
Lipoma
|
0.700 | CausalMutation | CLINVAR | ||||||||
Thyroid Nodule
|
0.700 | CausalMutation | CLINVAR | ||||||||
Proteus-Like Syndrome (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Autism Spectrum Disorders
|
0.700 | CausalMutation | CLINVAR | ||||||||
Intracranial Meningioma
|
0.700 | CausalMutation | CLINVAR | ||||||||
Lhermitte-Duclos disease
|
0.700 | CausalMutation | CLINVAR | ||||||||
Large head (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Type 1 Papillary Renal Cell Carcinoma
|
0.700 | CausalMutation | CLINVAR | ||||||||
Poor school performance
|
0.700 | CausalMutation | CLINVAR | ||||||||
CEREBELLOPARENCHYMAL DISORDER VI
|
0.700 | CausalMutation | CLINVAR | ||||||||
Developmental delay (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hamartoma Syndrome, Multiple
|
0.710 | CausalMutation | CLINVAR | Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. | 9259288 | 1997 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. | 9140396 | 1997 | |||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | CausalMutation | CLINVAR | Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. | 9140396 | 1997 | |||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | CausalMutation | CLINVAR | Germline mutations in PTEN are present in Bannayan-Zonana syndrome. | 9241266 | 1997 | |||||
Non-Small Cell Lung Carcinoma
|
0.700 | CausalMutation | CLINVAR | Inactivation of the PTEN/MMAC1/TEP1 gene in human lung cancers. | 9598803 | 1998 | |||||
Non-Small Cell Lung Carcinoma
|
0.700 | CausalMutation | CLINVAR | Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. | 10555148 | 1999 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. | 10400993 | 1999 |